ACTL7B was first described by Chadwick et al. (1999), who identified and characterized two previously unreported actin-like genes, ACTL7A and ACTL7B (previously known as T-ACTIN 2 and T-ACTIN 1), from the familial dysautonomia candidate region on chromosome 9q31 in human. This evidence concerns the gene ACTL7B and Familial dysautonomia.